Paeds - community + genetics Flashcards
(51 cards)
1
Q
What are the 5 measures of child development?
A
- Gross motor
- Fine motor
- speech and language
- social, emotional, behavioural
- hearing and vision
2
Q
What are the 4 types of child abuse?
A
- physical abuse
- sexual abuse
- emotional abuse
- neglect
3
Q
When should you be more aware or suspicious of physical child abuse?
A
- young kids especially those <2 years old are at highest risk
features of a hx that should raise your suspicion are…
- mechanism of injury not compatible with the injury sustained
- childs developmental stage inconsistent with the injury
- Eg. a 3 month old sitting up and banging its head when…
- sitting without support, commando crawling, wriggling, stands holding to furniture = 9 months
- standing without support, bum shuffles, crusing on furniture, unsteady walking = 12 months
- walking without support, crawling upstairs = 15 months
- jumping on 2 feet = 30 months
- Eg. a 3 month old sitting up and banging its head when…
- significant injury with little/no explanation
- inconsistent hx given
- delay in presenting child to health care providers
- recurrent injuries
- parents reaction not appropriate to situation (eg. overly concerned, aggressive, elusive, vague)
4
Q
What are some medical/ nutritional/ educaitonal/ physical presentations of neglect?
A
- Medical = unimmunised, missed appointments, poor compliance with medication, failure to seek appropriate or timely medical help
- Nutritional = faltering growth due to failure to provide sufficient diet, obesity due to failure to control lifestyle
- Educational = poor school attendance
- Physical = inadequate hygiene, severe or persistent infections or infestations, inappropriate clothing for childs size and weather
- Failure to supervise eg. frequent A&E attendances, injuries like burns or scalds that suggest lack of care, ingestion of harmful substances
5
Q
What are some presentations of a child that has been sexually abused?
A
- allegation
- pregnancy
- sti
- ano-genital injury
- unexplained vaginal bleeding
- unexplained rectal bleeding
- recurrent vaginal discharge
- soiling, bowel problems, enuresis
- behavioural difficulties
- being around an adult that has been identified as a risk to children
6
Q
What is your responsibility as a medical professional when you suspect child abuse?
A
- have a low threshold if you have concerns
- document everything clearly in patient notes
- sign, date, time all entries
- seek advice from senior colleagues on how to proceed
- go up in seniority or contact doctor/nurse in charge of safe guarding if the advice is not sufficient
- communicate with nursing staff
- dont ask leading questions during disclosure (can affect case if it goes to court)
- reassure child you believe them, they are not in trouble, listen to everything, however do not make promises you cannot keep
7
Q
What are some potential differentials of global developmental delay?
A
- Down’s syndrome
- Fragile X syndrome
- foetal alcohol syndrome
- Rett syndrome
- Metabolic disorders
8
Q
What are some differentials for fine and gross motor delay?
A
Gross motor
- cerebral palsy
- ataxia
- myopathy
- spina bifida
- visual impairment
Fine motor
- dyspraxia
- cerebral palsy
- muscular dystrophy
- visual impairment
- congenital ataxia
9
Q
What are some differentials for language and social delay?
A
Language
- specific social circumstances eg. exposure to multiple languages
- hearing impairment
- learning disability
- neglect
- autism
- cerebral palsy
Social and personal
- Emotional and social neglect
- Parenting issues
- Autism
10
Q
Define:
- Dyslexia
- Dysgraphia
- Dyspraxia
- Auditory processing disorder
- Non-verbal learning disability
- Profound and multiple learning disability
A
Dyslexia = specific difficulty in reading, writing, spelling
Dysgraphia = specific difficulty in writing
Dyspraxia = “developmental co-ordination disorder”. A specific difficulty in physical co-ordination. presents as delayed gross and fine motor skills, a clumsy child.
Auditory processing disorder = specific difficulty in processing auditory information
Non-verbal learning disability = specific difficulty in processing non-verbal information eg. body language and facial expressions
Profound and multiple Learning Disability = severe difficulties across multiple areas, usually requiring help with all aspects of daily life
11
Q
How would you classify the severity of a learning disability?
A
Based on IQ
Mild = 55-70
Moderate = 40-55
Severe = 25-40
Profound = Under 25
12
Q
What are some features of anorexia nervosa?
A
- excessive weight loss
- amenorrhoea
- lanugo hair across most of the body
- low fsh, lh, oestrogen, testosterone
- hypokalaemia
- high cortisol, gh, hypercholesterolaemia
- hypotension
- hypothermia
- changes in mood, anxiety, depression
- solitude
- means to lose weight eg. diet pills, laxatives, excessive exercise
complications eg. arrhythmia, cardiac atrophy, sudden cardiac death
13
Q
What are some features of bulimia nervosa?
A
- alkalosis due to vomiting (seen on abg)
- hypokalaemia
- erosion of teeth
- swollen salivary glands (swelling to face or under jaw)
- mouth ulcers
- gastro-oesophageal reflux and irritation
- calluses on knuckles from being sick = Russell’s sign
- fluctuating body weight or normal body weight
- binge eating followed by “purging” by vomiting, laxatives or excess exercise
14
Q
What is binge eating disorder? How is it different to bulimia?
A
Characterised by episodes of excessive eating.
- usually eats very quickly, almost in a “dazed” state
- unrelated to hunger, eats until they are uncomfortably full
Not a restrictive condition like anorexia or bulimia.
15
Q
What is the pathophysiology of refeeding syndrome?
A
- typically occurs 3-4 days after eating begins
- occurs in people that have been in severe nutritional deficit for a long period of time, when they eat again
- those at a BMI<20 or who have had little to eat for the past 5 days are at high risk
- lower the BMI and longer the period of malnutrition = higher risk
- prolonged malnutrition causes the metabolism in cells and organs to slow down
- when you start eating again, and your cells need to start processing glucose/protein/fats again, they use up magnesium/potassium/phosphorus
- this leads to low serum electrolytes (Hypomagnesaemia, Hypokalaemia, Hypophosphataemia) and hypoglycaemia
- low phosphate can cause muscle weakness = diaphragmatic deficiency
- These patients become at risk of cardiac arrhythmias, heart failure and fluid overload
16
Q
How would you manage refeeding syndrome?
A
- slowly reintroduce food with restricted calories
- monitor magnesium, potassium, phosphate and glucose with other routine bloods
- fluid balance monitoring
- ecg monitoring in severe cases
- supplementation with electrolytes and vitamins (particularly B vitamins and thiamine)
17
Q
What is autism spectrum disorder?
(Use PSYCH NOTES FOR REVISION)
A
A range of conditions (eg. Aspergers syndrome and Autistic disorder)
characterised by challenges to social interaction, repetitive behaviours and communication skills (speech and non-verbal)
18
Q
How would you manage ADHD in kids?
(Use PSYCH NOTES FOR REVISION)
A
- Pre-school = ADHD focused group parent training programme
- School age = group based support for parents/carers
- liase with school/college/uni if consented
- individual parent training programmes if they don’t like group
- Medications if ADHD is causing severe impairment
- Methylphenidate 1st line
- alternatives = Lisdexamfetamine, dexamfetamine, atomoxetine
- CBT can be used in combo with meds if meds need a little help
-
Monitor child’s weight/height/BP/HR every 6 months to see if medications are affecting their growth
- if so, suggest a planned break over school holidays to allow “catch-up” growth
19
Q
What is a personality disorder?
(Use PSYCH NOTES TO REVISE)
A
characterised by patterns of thought, behaviour and emotions that differ from what is normally expected by society
20
Q
What are some examples of simple and complex tics?
(Use PSYCH NOTES TO REVISE)
A
Simple tics
- clearing throat
- blinking
- head jerking
- sniffing
- grunting
- eye rolling
examples of Complex tics
- Copropraxia = making obscene gestures
- Coprolalia = saying obscene words
- Echolalia = repeating other peoples words
- etc
21
Q
What is Down’s Syndrome and how does it present?
A
3 copies of chromosome 21 = trisomy 21
It gives characteristic dysmorphic features and associated conditions (people can be affected to different degrees)
Dysmorphic features:
- Hypotonia
- Brachycephaly (small head with a flat back)
- short neck
- short stature
- flattened face and nose
- prominent epicanthic folds
- upward sloping palpable fissures
- single palmar crease
22
Q
What are some common complications of Down’s syndrome?
A
- Learning disability
- Recurrent otitits media
- Deafness (Eustachian tube abnormalities lead to glue ear and conductive hearing loss)
- Visual problems eg. myopia, strabismus, cataracts
- Hypothyroidism
- Cardiac defects eg. ASD, VSD, PDA, Tetralogy of Fallot
- Atlantoaxial instability
- Leukaemia
- Dementia
23
Q
How would you diagnose Downs?
A
-
Combined test between 11-14 weeks gestation
- combines US (measures nuchal translucency which is the thickness of the back of the neck of the foetus, >6mm is suggestive) + Maternal Blood tests
- Maternal blood tests = bHCG (higher result is greater risk), pregnancy-associated plasma protein (lower result is greater risk)
-
Triple test between 14-20 weeks gestation
- involves maternal blood tests = bHCG, Alpha fetoprotein (lower result is greate risk), Serum oestriol (lower result is greater risk)
-
Quadruple test between 14-20 weeks gestation
- identical to triple test but includes maternal blood for inhibin-A (higher inhibinA is greater risk)
- When the risk of Downs is >1/150, the woman is offered amniocentesis or chorionic villus sampling to give a definitive diagnosis of Downs or not
- Non-invasive prenatal Testing is new and involves a blood test from the mother
24
Q
How would you manage Downs syndrome?
A
“Management would involve members of the multidisciplinary team”
- occupational therapy
- speech and language therapy
- physiotherapy
- dietician
- paediatrician
- GP
- health visitors
- cardiologist for congenital heart disease
- ENT specialist for ear problems
- audiologist for hearing aids
- optician for glasses
- social services for social care and benefits
- additional support for educational needs
- Charities like Down’s Syndrome Association
25
What is Turners syndrome?
When a female has a single X chromosome, making them 45XO
Features...
* **short stature**
* **webbed neck**
* high arching palate
* downward sloping eyes with ptosis
* broad chest with **widely spaced nipples**
* **cubitus valgus**
* underdeveloped ovaries with reduced function
* late or incomplete puberty
* most women are infertile
26
What are some conditions associated with Turners?
* recurrent otitis media
* recurrent UTI
* **coarctation of the aorta**
* **bicuspid aortic valve**
* **aortic root dilatation**
* **horseshoe kidney**
* hypothyroidism
* hypertension
* obesity
* diabetes
* osteoporosis
* various specific learning disabilities
27
How would you manage Turners?
* growth hormone therapy to prevent short stature
* oestrogen and progesterone replacement to establish female secondary sexual characteristics, regulate menstrual cycle, prevent osteoporosis
* Fertility treatment to increase chances of becoming pregnant
* manage treatable conditions like hypertension and hypothyroidism
28
What is Marfan syndrome?
autosomal dominant condition affecting the gene responsible for fibrillin.
Fibrillin is an important component of connective tissue.
Features:
* tall stature
* long neck
* long limbs
* long fingers (arachnodactyly)
* high arch palate
* hypermobility
* pectus carinatum or pectus excavatum
* downward sloping palpable fissures
29
How would you test for arachnodactyly?
* Ask them to lay their thumb across their palm
* if the thumb tip goes past the opposite edge of the hand, this indicates arachnodactyly
* Ask them to wrap the thumb and fingers of one hand around the other wrist.
* If the thumb and fingers overlap, this indicates arachnodactyly
30
What are some associated conditions of Marfans?
* Lens dislocation in the eye
* joint dislocations and pain due to **hypermobility**
* scoliosis of the spine
* pneumothorax
* gastro-oesophageal reflux
* **mitral valve prolapse (with regurg)**
* **aortic valve prolapse (with regurg)**
* aortic aneurysms
31
How would you manage Marfans?
the greatest associated risk is from cardiac complications eg. valve prolapse and aortic aneurysms
* minimise bp and stress on heart
* lifestyle changes (avoid intense exercise, avoid caffeine and stimulants)
* preventative meds (beta blockers, angiotensin II receptor antagonists)
* consider pregnancy carefully as it carries a significant risk of developing aortic aneurysms
* **Physiotherapy** to strengthen joints and reduce hypermobility symptoms
* **genetic counselling** to consider implications of having kids with this condition
* follow up with **annual echocardiograms and opthalmologist reviews**
32
What is fragile X syndrome?
A mutation in the FMR1 (Fragile X Mental Retardation 1) gene on the X chromosome
It is X linked so males are always affected, but females vary in how much they are affected as they have a spare normal copy of FMR1 on their other X.
33
What are some features of fragile x syndrome?
* delay in speech and language development
* intellectual disability
* long narrow face
* large ears
* large testicles after puberty
* hypermobile joints (particularly in hands)
* ADHD
* autism
* seizures
34
How would you manage fragile X syndrome?
* mainly supportive to treat symptoms
* MDT to support learning disability, manage autism and ADHD
* treat seizures if they occur
35
What is Prader-Willi Syndrome?
A genetic condition caused by **loss of functional genes** on the **proximal arm of the chromosome 15** (inherited from father).
Can be due to a _deletion_ of this prortion of the chromosome, or when _both copies of chromosome 15 are inherited from mother_.
36
What are some features of Prader-Willi syndrome?
* constant **insatiable hunger** that leads to **obesity**
* **poor muscle tone** as an infant (hypotonia)
* mild-moderate learning disability
* **hypogonadism**
* fairer, soft skin prone to bruising
* mental health problems, particularly anxiety
* dysmorphic features
* narrow forehead
* almond shaped eyes
* strabismus
* thin upper lip
* downturned mouth
37
How would you manage prader-willi syndrome?
* **limiting access to food** under guidance of a **dietician** to control weight
* locking food in cupboards, lock on fridge, controlling rubbish bins
* usually require lower calorie intake as they typically have lower activity levels due to hypotonia and poor muscle strength
* educate everyone else to limit childs access to food (eg. teachers, relatives, carers)
* **Growth hormone** is indicated by NICE
* improves muscle development and body composition
* MDT input = dieticians, education support, social workers, psychologists or psychiatrists, physiotherapists, occupational therapists
38
What is angelman syndrome?
* a genetic condition caused by **loss of function of the UBE3A gene** (specifically the copy of the gene that is inherited from the **mother**)
* can be caused by a _deletion_ on chromosome 15, a _specific mutation_ in this gene, or where _two copies of chromosome 15 are contributed by the father_ with no maternal copy
39
What are some features of angelman syndrome?
* delayed development and learning disability
* severe delay or absence of speech development
* coordination and balance problems (**ataxia**)
* **fascination with water**
* **happy demeanour**
* inappropriate laughter
* hand flapping
* abnormal sleep patterns
* epilepsy
* ADHD
* dysmorphic features
* **microcephaly**
* fair skin, light hair, blue eyes
* **wide mouth with widely spaced teeth**
40
How would you manage angelman syndrome?
Similarly to other genetic syndromes, there is no cure.
MDT approach to support the patient and carers.
* parental education
* social services and support
* educational support
* physiotherapy
* occupational therapy
* psychology
* CAMHS
* anti-epileptic medication
41
What is William syndrome?
* deletion of genetic material on one copy of **chromosome 7** so the person only has one copy of the genes in that region (on the other chromosome 7)
* usually occurs as a _random deletion around conception_, not inherited from an affected parent.
42
How does William syndrome present?
* broad forehead
* **starburst eyes** (star like pattern on the iris)
* flattened nasal bridge
* long philtrum
* **wide mouth, big smile with widely spaced teeth**
* small chin
* **very sociable trusting personality**
* mild learning disability
43
What are some conditions associated with Williams Syndrome?
* **supravalvular aortic stenosis** (narrowing just above the aortic valve)
* ADHD
* hypertension
* **hypercalcaemia**
44
How would you manage Williams Syndrome?
* MDT approach to support patient and family
* Echocardiograms and BP monitoring to assess for aortic stenosis and HTN
* low calcium diet to control hypercalcaemia
* avoid calcium and vitamin D supplements
45
What is cerebral palsy?
Permanent neurological problems that result from damage to the brain around the time of birth.
**Spastic CP** (also known as **pyramidal CP**) = *increased tone and reduced function* due to damage to _Upper Motor Neurones_
**Dyskinetic CP** (athetoid CP or extrapyramidal CP) = problems controlling muscle tone, hypertonia/hypotonia causing *athetoid movements and oromotor problems*. The result of damage to the _basal ganglia_
**Ataxic CP**= *problems with coordinated movement* resulting from damage to the _cerebellum_
**Mixed** = a mix of spastic, dyskinetic and/or ataxic features
46
What are some causes of cerebral palsy?
Antenatal
* maternal infections
* trauma during pregnancy
Perinatal
* birth asphyxia
* pre-term birth
Postnatal
* meningitis
* severe neonatal jaundice
* head injury
47
How does cerebral palsy present?
* hard to predict who will develop cerebral palsy purely based on events in the per-natal period, so follow up at risk children
* eg children with hypoxic-ischaemic encephalopathy
Signs and symptoms...
* failure to meet milestones
* increased or decreased tone, generally or in specific limbs
* **hand preference (favouring one hand) below 18 months**
* problems with coordination, speech, walking
* feeding or swallowing problems
* learning difficulties
48
What would you see on neuro examination in a child with pathology
* **Hemiplegic/ diplegic gait**
* caused by increased muscle tone and spasticity in the legs
* leg will be extended with plantar flexion of the feet/toes
* indicates an _upper motor neurone lesion_ (good muscle bulk, increased tone, brisk reflexes, slightly reduced or normal power)
* Broad based gait/ ataxic gait
* indicates a _cerebellar lesion_
* assess coordination to look for cerebellar involvement = DANISH
* High stepping gait
* indicates foot drop or a _lower motor neurone lesion_
* Waddling gait
* indicates pelvic muscle weakness due to _myopathy_
* Antalgic gait
* indicates _localised pain_
* Athetoid movements indicate extrapyramidal (_basal ganglia) involvement_
49
what are some complications and associated conditions for cerebral palsy?
* Learning disability
* epilepsy
* kyphoscoliosis
* muscle contractures
* hearing and visual impairment
* gastro-oesophageal reflux
50
How would you manage cerebral palsy?
management involves a MDT team approach...
* **physiotherapy** to stretch and strengthen muscles, maximise function and prevent muscle contractures
* **occupational therapy** to help patients manage everyday activities
* they also can make adaptations to assist patient eg. rails for assistance or a hoist for a patient who is wheelchair bound
* **speech and language therapy** to help with speech and swallowing
* may need NG or PEG tube if swallowing problems is affecting their nutrition
* **Dieticians** to ensure they meet nutritional requirements
* **Orthopaedic surgeons** to release contractures or lengthen tendons (tenotomy)
* Social workers, charities, support groups
* Paediatricians can review and optimise medications...
* **muscle relaxants** eg. baclofen for muscle spasticity and contractures
* **anti-epileptic drugs** for seizures
* **glycopyrronium bromide** for excessive drooling
51
What are 3 common fractures to be concerned about safeguarding wise
Radial
Humeral
Femoral
